Type | Description |
---|---|
Definition | serpin family B member 7 |
Date | Results | Publications |
---|---|---|
2021-03-13 13:25:00 | Nagashima-type palmoplantar keratosis in Finland caused by a SERPINB7 founder mutation. | 31706940 |
2019-05-25 12:35:00 | SERPINB7 may be a valuable candidate for further studies. In the present study, a method for identifying novel key pathogenic skinspecific molecules is presented, which may be used for investigating and treating psoriasis. | 30592269 |
2019-05-04 12:06:00 | mutant SERPINB7 mRNAs harboring r.796c>u were degraded by nonsense-mediated mRNA decay. Furthermore, the truncated SERPINB7 protein was degraded via a proteasome-mediated pathway | 29106929 |
2018-08-25 11:14:00 | SERPINB7 mutations are related strictly to the PPKN phenotype. Our study indicates that screening for SERPINB7 mutations is useful to distinguish PPKN from other PPK types and from non-PPK keratinizing diseases with palmoplantar skin lesions. | 28211129 |
2017-04-15 10:22:00 | Direct sequencing of SERPINB7 revealed five homozygous founder mutations (c.796C>T) and four compound heterozygous mutations in nine patients, including one novel mutation (c.122_127delTGGTCC). | 27666198 |
Type | IDs |
---|---|
Synonymous | MEGSIN, PPKN, TP55 |
Gene |
UniProtKB-ID:
SPB7_HUMAN,
A8K3Q8_HUMAN
UniprotKB:
O75635,
A8K3Q8
UniParc:
UPI0002065863,
UPI0000135DAA,
UPI00015DA6ED
EMBL:
AK300828,
AC072051,
AF027866,
BC069417,
BC106744,
BC106743,
BC069547,
AK290673,
AC069356,
D88575,
BC069442
Ensembl:
ENSG00000166396
KO:
hsa:8710
|
Nucleutide sequences |
EMBL-CDS:
AAI06744.1,
AAH69547.1,
BAA31232.1,
AAH69417.1,
BAG62480.1,
AAH69442.1,
AAC64506.1,
AAI06745.1,
BAF83362.1
Ensembl_TRS:
ENST00000336429,
ENST00000540675,
ENST00000546027,
ENST00000398019
|
Protein sequencees |
Ensembl_PRO:
ENSP00000444861,
ENSP00000444572,
ENSP00000337212,
ENSP00000381101
RefSeq:
NP_003775.1,
NP_001248760.1,
XP_024307046.1,
NP_001248759.1,
NP_001035237.1
|
Others |
UniRef100:
UniRef100_A8K3Q8,
UniRef100_O75635
UniRef90:
UniRef90_O75635
UniRef50:
UniRef50_O75635
UniGene:
Hs.138202,
Hs.742388
CCDS:
CCDS11988.1,
CCDS58633.1
|
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Refseq |
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